摘要
低钾性内分泌代谢疾病是低钾血症病因中相当重要的一组疾病,其种类繁杂,诊治困难,主要由甲状腺毒症、库欣综合征、醛固酮增多症或糖尿病酮症酸中毒等引起。目前,内源性激素在发病时的潜在机制已逐步阐明。基因组学及分子生物学技术的应用,揭示了该组疾病的致病基因,证实了相关疾病与离子通道基因突变有关。基因分型的确立以及基因检测筛选为诊治提供了新的方向。
Low potassium endocrine metabolic disease is a group of disease which is an important cause of hypokale-ia. It＇s featured with complex types, difficult diagnosis and treatment, and is mainly caused by thyrotoxicosis, Cushing syndrome, aldosteronism, or diabetic ketoacidosis. Currently, the underlying mechanisms of endogenous hormones at the onset are gradually clarified. Genomics and molecular biology technology reveal the pathogenic genes, confirming the diseases are associated with ion channel gene mutation. Establishment of genetic testing and genotyping provides a new direction for the diagnosis and screening.
作者
段丽君
江霞
DUAN Lijun JIANG Xia.(Department of Endocrinology, Tiarrjin First Center Hospital, Tianjin 300192, China)
出处
《医学综述》
2017年第1期16-20,共5页
Medical Recapitulate
基金
国家自然科学基金(31470925)
卫生部激素与发育重点实验室开放课题代谢性疾病基础与临床协同创新中心科学基金(2014DX01)
天津市卫生局科技基金(2013KZ025)
关键词
低钾血症
内分泌代谢疾病
基因突变
激素
Hypokalemia
Endocrine and metabolic diseases
Gene mutation
Hormone
